| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Pontocerebellar hypoplasia type 8 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | CHMP1A-related disorder +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene